title: Ethical challenges of the use of whole exome sequencing in the clinic.
abstract: Genetic testing has been utilized to determine the etiology of some pediatric cardiac conditions for decades. However, new techniques, such as clinical whole exome sequencing, raise ethical challenges that must be addressed for the successful integration of these techniques into routine clinical care. One major ethical concern is the ability of patients to provide meaningful informed consent for this type of complex testing. A case of familial dilated cardiomyopathy with pediatric onset of unknown genetic etiology was utilized to facilitate the discussion of these issues by a panel including cardiologists, a geneticist, and a genetic counselor. Cardiologists and their medical genetics colleagues need to continue to discuss and investigate how to ethically integrate rapidly advancing genetic testing technologies into patient care to optimize potential benefits and minimize potential harms.
authors.affiliation: Department of Medicine, Division of Translational Medicine and Human Genetics, Hospital of the University of Pennsylvania, Philadelphia, PA 19104, USA. shana.merrill@uphs.upenn.edu
authors.forename: Shana L
authors.initials: SL
authors.lastname: Merrill
authors.forename: Anjali
authors.initials: A
authors.lastname: Vaidya
authors.forename: Reed E
authors.initials: RE
authors.lastname: Pyeritz
mesh_terms: D002311:Cardiomyopathy, Dilated / Q000235:genetics*; D017147:Defibrillators, Implantable; D004992:Ethics, Medical; D059472:Exome / Q000235:genetics*; D005260:Female; D005820:Genetic Testing / Q000941:ethics*; D006331:Heart Diseases / Q000235:genetics*; D006344:Heart Septal Defects, Atrial / Q000150:complications / Q000601:surgery; D006801:Humans; D008297:Male; D010375:Pedigree; D017422:Sequence Analysis, DNA / Q000941:ethics*; D055815:Young Adult
keywords: dilated cardiomyopathy; ethics; genetic testing; informed consent; sequencing